SMC1A (structural maintenance of chromosomes 1A)

2003-11-01  

Identity

HGNC
SMC1A
LOCATION
Xp11.22
LOCUSID
8243
ALIAS
CDLS2,DEE85,DXS423E,EIEE85,SB1.8,SMC1,SMC1L1,SMC1alpha,SMCB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8243
MIM: 300040
HGNC: 11111
Ensembl: ENSG00000072501

Variants:

dbSNP: 8243
ClinVar: 8243
TCGA: ENSG00000072501
COSMIC: SMC1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072501ENST00000322213Q14683
ENSG00000072501ENST00000322213A0A384MR33
ENSG00000072501ENST00000375340G8JLG1
ENSG00000072501ENST00000428014H0Y7K8
ENSG00000072501ENST00000463684V9GYN9
ENSG00000072501ENST00000470241V9GY57

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Cell cycleKEGGhsa04110
Oocyte meiosisKEGGko04114
Oocyte meiosisKEGGhsa04114
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
S PhaseREACTOMER-HSA-69242
Establishment of Sister Chromatid CohesionREACTOMER-HSA-2468052
M PhaseREACTOMER-HSA-68886
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813
Mitotic Telophase/CytokinesisREACTOMER-HSA-68884
Cohesin Loading onto ChromatinREACTOMER-HSA-2470946
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382821442024AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer.0
382821442024AKT/FOXM1/STMN1 signaling pathway activation by SMC1A promotes tumor growth in breast cancer.0
371076102023Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.4
372125242023PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A.5
375375402023SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT.2
371076102023Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.4
372125242023PIK3R3 is upregulated in liver cancer and activates Akt signaling to control cancer growth by regulation of CDKN1C and SMC1A.5
375375402023SMC1A facilitates gastric cancer cell proliferation, migration, and invasion via promoting SNAIL activated EMT.2
352386822022Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.2
352386822022Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.2
334853912021Cohesin promotes HSV-1 lytic transcription by facilitating the binding of RNA Pol II on viral genes.5
334853912021Cohesin promotes HSV-1 lytic transcription by facilitating the binding of RNA Pol II on viral genes.5
324962722020Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.0
325328822020A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.3
324962722020Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.0

Citation

Dessen P

SMC1A (structural maintenance of chromosomes 1A)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/42339/img/haematological-explorer/favicon/favicon-16x16.png